Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

Salmon patch maculopathy: An amblyogenic complication of pediatric sickle cell retinopathy.

Purpose: To report a case of a large foveal sub-internal limiting membrane hemorrhage from sickle cell retinopathy in a pediatric patient.

Observations: A five-year-old boy with sickle cell disease (SCD) type SS (HbSS) and numerous complications was referred after a failed vision screening and was found to have a large yellow subacute sub-internal limiting membrane hemorrhage overlying the fovea in his right eye. There were several other peripheral salmon patches noted.

Vitreoretinopathy in Asymptomatic Children With CTNNB1 Syndrome.

Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy in all patients.

Objective: To report a consecutive retrospective case series of 11 patients with CTNNB1 variants who had previously unremarkable ophthalmoscopic examination results and to describe their detailed ophthalmic phenotypes.

Posterior Retinal Breaks Secondary to Closed-Globe Blunt Ocular Trauma.

To describe 2 cases of posterior pole retinal tears resulting from closed-globe trauma. Two cases of retinal breaks in the posterior pole after blunt ocular trauma were evaluated, and the relevant literature was reviewed. Two eyes of 2 patients with posterior pole retinal tears secondary to closed-globe trauma were included.

Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.

Purpose: To describe a case of TUBA1A-associated optic nerve hypoplasia and persistent fetal vasculature.

Methods: Observational case report.

Results: A female, full term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly.

IATROGENIC MACULAR HOLE BECAUSE OF NEODYMIUM:YTTRIUM-ALUMINUM-GARNET-SELECTIVE LASER TRABECULOPLASTY LASER: CASE REPORT AND MANAGEMENT.

Purpose: To report a case of a patient who suffered a full-thickness macular hole because of the accidental utilization of the selective laser trabeculoplasty mode of a dual mode laser.

Method: Case report.

Results: A 69-year-old woman experienced vision loss in her left eye immediately after undergoing attempted neodymium:yttrium-aluminum-garnet capsulotomy using a neodymium:yttrium-aluminum-garnet-selective laser trabeculoplasty laser system.

INCIDENCE AND RISK FACTORS FOR EXUDATIVE RETINAL DETACHMENT FOLLOWING LASER PHOTOCOAGULATION FOR RETINOPATHY OF PREMATURITY.

Purpose: Exudative retinal detachment (ERD) may result from laser photocoagulation for retinopathy of prematurity. Although risk factors have been hypothesized from case reports, comparative studies have not been reported. We sought to evaluate risk factors for ERD following laser, comparing affected and unaffected infants.

Congenital Retinal Macrovessel and Cavernous Hemangioma in Cowden Syndrome - A Case Report and Review of Literature.

Purpose: To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature.

Methods: Observational case report and literature review.

Retinal detachment in a pediatric patient with enhanced S-cone syndrome.

Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a retinal degeneration that presents in childhood and leads to progressive nyctalopia and visual field loss. In advanced cases, this degeneration can result in loss of central visual acuity. We describe the case of a 15-year-old boy with ESCS who presented with retinal detachment, a rare complication.

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Purpose: To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia.

Observations: A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history.

Recent Practice Patterns in Acute Retinal Artery Occlusions in the United States.

Purpose: To determine how to practice patterns for work-up of incident retinal artery occlusion (RAO) compare to the American Academy of Ophthalmology (AAO) guidelines.

Methods: In this cohort study, patients receiving a new diagnosis of RAO, either central (CRAO) or branch (BRAO), were identified between 2002 and 2020 from a large US medical claims database. Claims were reviewed for diagnostic tests specified by the AAO as essential components of an RAO work-up including carotid ultrasound, echocardiogram, magnetic resonance imaging (MRI) and emergency department (ED) referral.

The association of stroke with central and branch retinal arterial occlusion.

Objectives: To determine the near-term risk of stroke following a retinal artery occlusion (RAO).

Methods: The risk of stroke was assessed in two manners; with a self-controlled case series (SCCS) and a propensity score (PS) matched cohort study using a US medical claims database. The date of RAO diagnosis was assigned as the index date.

Gazing Into the Crystal Ball: Calciphylaxis Causing Striking Retinal Vascular Calcification, Ocular Ischemic Syndrome, Crystalline Retinopathy, and Ischemic Optic Neuropathy.

A 72-year-old woman with membranous glomerulonephritis and failed renal transplant on peritoneal dialysis presented with bilateral vision loss. She reported several months of diminishing right eye vision that worsened after cataract extraction. On presentation, visual acuity was hand motion in the right and 20/100 in the left eye with a right afferent pupillary defect.

Cytomegalovirus retinitis in an immunocompetent host after complicated cataract surgery.

Purpose: To report a case of an immunocompetent patient who developed cytomegalovirus (CMV) retinitis after complicated cataract surgery resulting in aphakia.

Observations: A 67-year-old man with type 2 diabetes developed retinitis six months after cataract surgery that resulted in aphakia. Anterior chamber DNA testing was positive for CMV.

NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT.

Purpose: To describe in detail the phenotype of two siblings with biallelic NMNAT1 mutations.

Methods: A 4-year-old male patient (P1) and his 7-year-old sister (P2), product of a nonconsanguineous union of Egyptian ancestry, underwent a comprehensive ophthalmic examination, retinal imaging with spectral domain optical coherence tomography and near infrared (NIR) fundus autofluorescence (FAF), and full-field electroretinograms (ERG).

Results: Patients had blurred vision and nystagmus at ∼3 years of age.

Characteristics of Eyes With Good Visual Acuity at 5 Years After Initiation of Treatment for Age-Related Macular Degeneration but Not Receiving Treatment From Years 3 to 5: Post Hoc Analysis of the CATT Randomized Clinical Trial.

Importance: Identifying the characteristics of eyes with neovascular age-related macular degeneration (nAMD) that maintain good vision without anti-vascular endothelial growth factor treatment for at least 3 years after management, as occurred in the Comparison of Age-Related Macular Degeneration Treatments Trials (CATT), may have prognostic importance and help in understanding the disease and its treatment.

Objectives: To ascertain the characteristics of eyes in the CATT that retained good vision despite receiving no therapy for 3 years after release from the 2-year CATT treatment protocol.

Design, Setting And Participants: This case-control study analyzed the baseline and follow-up characteristics of eyes with nAMD that were enrolled in the CATT from 43 US clinical centers between February 20, 2008, and December 9, 2009.

Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in mimicking choroideremia.

: To confirm the pathogenic role of a novel mutation in and detail the phenotype of a patient presenting with choroideremia-like chorioretinal degeneration. : A 40-year-old man with presumed choroideremia underwent a complete ophthalmic examination, full-field electroretinography (ERG), kinetic fields and two-color automated static perimetry and retinal imaging with spectral domain optical coherence tomography (SD-OCT) and near-infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF). : Visual acuity was 20/200 and 20/40 for the right and left eye, respectively, with a ~ 5D myopic correction.